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Disease found:48 XXXY syndrome
Current as of:October 8, 2024
Disease Overview:Non-inherited disorder characterized by the presence of 2 extra X chromosomes in males. [more info]
Signs and Symptoms:Learning difficulties; intellectual disability; hypotonia, hypogonadism; delayed growth, azoospermia, autism, infertility, poor social skills and delayed language development. [more info]
Diagnosis:A diagnosis of 48,XXXY involves a special genetic test (commonly by blood after birth), typically either a karyotype or a microarray. [more info]
Treatment:Testosterone-based hormone therapy [more info]
Clinical Management:Specialist referrals, psychological and hormone therapy [more info]
Referral:No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical Trials:One clinical trial currently recruiting

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